Mutagenetix > Incidental Mutation

Incidental Mutation 'R1382:Crocc2'

163077

Institutional Source

Beutler Lab

Gene Symbol

Crocc2

Ensembl Gene

ENSMUSG00000084989

Gene Name

ciliary rootlet coiled-coil, rootletin family member 2

Synonyms

E030010N08Rik, LOC381284

MMRRC Submission

039444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1382 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

93096447-93158794 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 93144815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138595]

AlphaFold

F6XLV1

Predicted Effect

probably null
Transcript: ENSMUST00000138595

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989

Domain	Start	End	E-Value	Type
low complexity region	67	82	N/A	INTRINSIC
Pfam:Rootletin	89	260	5.1e-24	PFAM
coiled coil region	281	346	N/A	INTRINSIC
internal_repeat_1	381	424	9.68e-9	PROSPERO
internal_repeat_3	389	414	5.46e-6	PROSPERO
internal_repeat_4	398	425	1.1e-5	PROSPERO
coiled coil region	426	627	N/A	INTRINSIC
coiled coil region	655	1247	N/A	INTRINSIC
internal_repeat_2	1252	1280	6.61e-7	PROSPERO
internal_repeat_4	1341	1374	1.1e-5	PROSPERO
internal_repeat_1	1347	1384	9.68e-9	PROSPERO
coiled coil region	1403	1512	N/A	INTRINSIC
coiled coil region	1539	1582	N/A	INTRINSIC
low complexity region	1590	1604	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	T	15: 72,998,889 (GRCm39)	C236Y	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Asap2	A	G	12: 21,315,955 (GRCm39)	T916A	probably damaging	Het
Ceacam5	T	C	7: 17,486,090 (GRCm39)	V529A	probably benign	Het
Cep192	G	A	18: 67,989,370 (GRCm39)	R1839Q	possibly damaging	Het
Cope	A	G	8: 70,765,513 (GRCm39)	N295S	probably benign	Het
Cuedc1	C	T	11: 88,068,189 (GRCm39)	P146S	probably benign	Het
Ddc	T	C	11: 11,774,856 (GRCm39)	D345G	possibly damaging	Het
Dsg4	T	A	18: 20,598,181 (GRCm39)	C700S	probably benign	Het
Dst	A	T	1: 34,307,914 (GRCm39)	E6224D	probably damaging	Het
Exo1	A	G	1: 175,721,362 (GRCm39)	T334A	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Glyr1	GCTGCC	G	16: 4,839,209 (GRCm39)		probably null	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Lemd3	A	T	10: 120,767,641 (GRCm39)	I711K	probably damaging	Het
Lrrc8b	A	G	5: 105,628,749 (GRCm39)	D365G	probably damaging	Het
Mdga2	A	T	12: 66,517,690 (GRCm39)	I48K	possibly damaging	Het
Or51q1c	G	T	7: 103,652,927 (GRCm39)	L148F	probably benign	Het
Pate7	T	A	9: 35,689,390 (GRCm39)		probably benign	Het
Pdzph1	A	G	17: 59,281,742 (GRCm39)	V180A	probably benign	Het
Phactr1	T	C	13: 43,286,451 (GRCm39)	F584S	probably damaging	Het
Ppan	A	G	9: 20,803,214 (GRCm39)	K429E	probably benign	Het
Prkd3	A	G	17: 79,264,674 (GRCm39)	V647A	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptpru	A	G	4: 131,535,540 (GRCm39)	F407S	probably damaging	Het
Rab3gap1	A	T	1: 127,870,333 (GRCm39)	T985S	probably damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Tet2	C	T	3: 133,182,376 (GRCm39)	G1196D	probably damaging	Het
Tub	G	A	7: 108,629,360 (GRCm39)	V426I	probably damaging	Het
Wdr75	A	G	1: 45,856,471 (GRCm39)	Y498C	probably damaging	Het

Other mutations in Crocc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Crocc2	APN	1	93,144,766 (GRCm39)	nonsense	probably null
Popper	UTSW	1	93,111,126 (GRCm39)	missense	possibly damaging	0.81
R0396:Crocc2	UTSW	1	93,151,936 (GRCm39)	splice site	probably benign
R4608:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4609:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4619:Crocc2	UTSW	1	93,141,372 (GRCm39)	missense	probably benign
R4646:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4647:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4648:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4767:Crocc2	UTSW	1	93,130,578 (GRCm39)	missense	possibly damaging	0.72
R4811:Crocc2	UTSW	1	93,133,618 (GRCm39)	missense	probably damaging	0.99
R5046:Crocc2	UTSW	1	93,133,624 (GRCm39)	missense	probably damaging	0.96
R5389:Crocc2	UTSW	1	93,143,363 (GRCm39)	missense	probably benign	0.03
R5632:Crocc2	UTSW	1	93,145,575 (GRCm39)	missense	probably damaging	0.98
R5887:Crocc2	UTSW	1	93,121,838 (GRCm39)	missense	possibly damaging	0.47
R6128:Crocc2	UTSW	1	93,122,123 (GRCm39)	missense	probably benign	0.28
R6142:Crocc2	UTSW	1	93,118,201 (GRCm39)	missense	possibly damaging	0.61
R6258:Crocc2	UTSW	1	93,141,360 (GRCm39)	missense	possibly damaging	0.57
R6260:Crocc2	UTSW	1	93,141,360 (GRCm39)	missense	possibly damaging	0.57
R6288:Crocc2	UTSW	1	93,122,227 (GRCm39)	missense	probably benign	0.07
R6312:Crocc2	UTSW	1	93,143,432 (GRCm39)	nonsense	probably null
R6335:Crocc2	UTSW	1	93,130,560 (GRCm39)	missense	probably benign	0.02
R6339:Crocc2	UTSW	1	93,141,754 (GRCm39)	missense	probably benign	0.23
R6371:Crocc2	UTSW	1	93,143,353 (GRCm39)	missense	probably benign	0.10
R6439:Crocc2	UTSW	1	93,111,126 (GRCm39)	missense	possibly damaging	0.81
R6442:Crocc2	UTSW	1	93,112,775 (GRCm39)	missense	probably benign	0.38
R6545:Crocc2	UTSW	1	93,140,659 (GRCm39)	missense	probably benign	0.45
R6619:Crocc2	UTSW	1	93,118,223 (GRCm39)	missense	probably benign	0.09
R6898:Crocc2	UTSW	1	93,143,304 (GRCm39)	missense	probably benign	0.06
R7170:Crocc2	UTSW	1	93,121,704 (GRCm39)	missense	possibly damaging	0.95
R7378:Crocc2	UTSW	1	93,121,809 (GRCm39)	missense	probably damaging	0.98
R7395:Crocc2	UTSW	1	93,143,829 (GRCm39)	nonsense	probably null
R7461:Crocc2	UTSW	1	93,122,311 (GRCm39)	missense	possibly damaging	0.47
R7613:Crocc2	UTSW	1	93,122,311 (GRCm39)	missense	possibly damaging	0.47
R7831:Crocc2	UTSW	1	93,143,195 (GRCm39)	missense	probably benign	0.17
R7915:Crocc2	UTSW	1	93,141,363 (GRCm39)	missense	probably damaging	1.00
R8085:Crocc2	UTSW	1	93,130,578 (GRCm39)	missense	possibly damaging	0.72
R8171:Crocc2	UTSW	1	93,116,723 (GRCm39)	critical splice donor site	probably null
R8193:Crocc2	UTSW	1	93,117,888 (GRCm39)	splice site	probably null
R8494:Crocc2	UTSW	1	93,144,788 (GRCm39)	missense	probably damaging	1.00
R8856:Crocc2	UTSW	1	93,120,847 (GRCm39)	missense	probably benign	0.41
R8918:Crocc2	UTSW	1	93,129,144 (GRCm39)	missense	possibly damaging	0.51
R8970:Crocc2	UTSW	1	93,116,687 (GRCm39)	missense	probably benign	0.02
R9458:Crocc2	UTSW	1	93,145,516 (GRCm39)	missense	probably damaging	0.97
R9482:Crocc2	UTSW	1	93,143,106 (GRCm39)	missense	probably benign	0.32
R9522:Crocc2	UTSW	1	93,117,429 (GRCm39)	missense	probably benign	0.02
R9597:Crocc2	UTSW	1	93,118,217 (GRCm39)	missense	probably benign	0.26
R9703:Crocc2	UTSW	1	93,130,444 (GRCm39)	missense	probably benign
Z1177:Crocc2	UTSW	1	93,154,414 (GRCm39)	missense	probably benign	0.04
Z1177:Crocc2	UTSW	1	93,141,317 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCCATGTGCTAAGGGCTAGAC -3'
(R):5'- GCAAGTAGACTCATTGAGCTGAGGC -3'

Sequencing Primer
(F):5'- GCTAGACCAGGAGCTGC -3'
(R):5'- tgccaaatagagggcacag -3'

Posted On

2014-03-17